Canonical Allele Identifier: CA361489017

Gene: PURA

Linked Data

• gnomAD v4: 5-140114197-A-G
• MyVariant Identifiers: chr5:g.139493782A>G (hg19) ; chr5:g.140114197A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114197A>G , CM000667.2:g.140114197A>G	GRCh38
NC_000005.9:g.139493782A>G , CM000667.1:g.139493782A>G	GRCh37
NC_000005.8:g.139473966A>G	NCBI36
NG_041813.1:g.5075A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.16A>G MANE Select	ENSP00000332706.3:p.Ser6Gly
ENST00000505703.2:c.16A>G	ENSP00000498560.1:p.Ser6Gly
ENST00000651386.1:c.16A>G	ENSP00000499133.1:p.Ser6Gly
ENST00000331327.4:c.16A>G	ENSP00000332706.3:p.Ser6Gly
ENST00000502351.1:n.439A>G
ENST00000505703.1:n.481A>G
NM_005859.4:c.16A>G	NP_005850.1:p.Ser6Gly
NM_005859.5:c.16A>G MANE Select	NP_005850.1:p.Ser6Gly